AIM2[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 780267	NM_004833.3(AIM2):c.1030T>G (p.Ter344Glu)	AIM2	Single nucleotide variant (stop lost)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3041346	NM_004833.3(AIM2):c.1027del (p.Thr343fs)	AIM2 (T238fs +1 more)	Deletion (frameshift variant)	AIM2-related disorder	GBenign
Select item 2598372	NM_004833.3(AIM2):c.950T>A (p.Leu317Gln)	AIM2 (L212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475781	NM_004833.3(AIM2):c.932G>A (p.Arg311Gln)	AIM2 (R311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595879	NM_004833.3(AIM2):c.904A>G (p.Met302Val)	AIM2 (M197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102825	NM_004833.3(AIM2):c.895G>A (p.Glu299Lys)	AIM2 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277298	NM_004833.3(AIM2):c.889A>G (p.Arg297Gly)	AIM2 (R192G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720287	NM_004833.3(AIM2):c.795T>C (p.Asn265=)	AIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256110	NM_004833.3(AIM2):c.760A>G (p.Thr254Ala)	AIM2 (T149A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780268	NM_004833.3(AIM2):c.750G>T (p.Pro250=)	AIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233399	NM_004833.3(AIM2):c.689C>T (p.Ala230Val)	AIM2 (A125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279007	NM_004833.3(AIM2):c.676C>T (p.Arg226Cys)	AIM2 (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533956	NM_004833.3(AIM2):c.632G>T (p.Arg211Ile)	AIM2 (R106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597716	NM_004833.3(AIM2):c.581A>G (p.Asn194Ser)	AIM2 (N194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551563	NM_004833.3(AIM2):c.551A>G (p.Glu184Gly)	AIM2 (E79G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525387	NM_004833.3(AIM2):c.548C>T (p.Thr183Ile)	AIM2 (T78I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558733	NM_004833.3(AIM2):c.533A>G (p.His178Arg)	AIM2 (H178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542210	NM_004833.3(AIM2):c.439G>A (p.Glu147Lys)	AIM2 (E147K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780269	NM_004833.3(AIM2):c.396+6A>T	AIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2538669	NM_004833.3(AIM2):c.349G>T (p.Asp117Tyr)	AIM2 (D12Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775617	NM_004833.3(AIM2):c.249G>A (p.Glu83=)	AIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3102792	NM_004833.3(AIM2):c.163A>G (p.Asn55Asp)	AIM2 (N55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313214	NM_004833.3(AIM2):c.136A>G (p.Ile46Val)	AIM2 (I46V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340287	GRCh37/hg19 1q23.1-23.2(chr1:158822741-159244974)x3	ACKR1, AIM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 34